Varaico: Literature-Extracted Genetic Variants

Gene:RAB11A
Variant:p.Q70L
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RAB11A

NM_004663.5:p.Q70L

Associated Papers

Clathrin-associated carriers enable recycling through a kiss-and-run mechanism.

Xu J et al.

Nature Cell Biology, 2024

CRB3 navigates Rab11 trafficking vesicles to promote γTuRC assembly during ciliogenesis.

Wang B et al.

Elife, 2023

A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization.

Tsuneura Y et al.

Human Mutation, 2023

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kampf LL et al.

Journal of the American Society of Nephrology : Jasn, 2019

FLCN is a novel Rab11A-interacting protein that is involved in the Rab11A-mediated recycling transport.

Zhao L et al.

Journal of Cell Science, 2018

CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium.

Mönnich M et al.

Cell Reports, 2018

shRNA-Based Screen Identifies Endocytic Recycling Pathway Components That Act as Genetic Modifiers of Alpha-Synuclein Aggregation, Secretion and Toxicity.

Gonçalves SA et al.

Plos Genetics, 2016

Nuclear localization of platelet-activating factor receptor controls retinal neovascularization.

Bhosle VK et al.

Cell Discovery, 2016

Recycling endosome tubule morphogenesis from sorting endosomes requires the kinesin motor KIF13A.

Delevoye C et al.

Cell Reports, 2014

Rab 11 regulates constitutive dopamine transporter trafficking and function in N2A neuroblastoma cells.

Furman CA et al.

Neuroscience Letters, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."